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Trending: More People Ask Doctor for MTHFR Testing

Trending: More People Ask Doctor for MTHFR Testing

MTHFR Testing

First, what’s the MTHFR gene?

MTHFR is a lot easier to remember (and say) than Methylene Tetrahydrofolate Reductase!

MTHFR codes for the enzyme which converts folic acid to the form of folate a form that our bodies can actually use!

A person with MTHFR SNPs (genetic variations) is likely to have significantly reduced ability to convert inactive forms of folic acid to the active form of folate.

Adequate folate is central to good health.  Imagine…every cell needs folate when it is created (DNA synthesis)!

Folate is also needed for cardiovascular and neural health, as well as neurotransmitter synthesis.

At the molecular level, the main function of folate is to donate methyl groups in many key biochemical reactions. More info about folate.

Why Are More People Requesting MTHFR Testing?

It depends. Some people ask their doctor for the MTHFR genetic test because they’ve been hearing so much about it. They want this information as it can provide new insights into achieving optimal health.

Other times, people are looking for an underlying (or functional) reason for not feeling well.

Perhaps they may be having digestive issues, constipation or diarrhea, IBS, or food intolerances.

Or, they may be experiencing symptoms like an excessive histamine response, brain fog, sleep difficulties, anxiety, getting sick often (lowered immunity), fatigue, joint pain, or neuropathy.

Knowing whether or not they have SNPs in the MTHFR gene provides a valuable new clue that a healthcare provider like myself can use to personalize a nutrition plan for improved health.

(In my practice I also use other clues of inadequate folate status such as elevated homocysteine, low red blood cell folate, high urine FIGLU (Formiminoglutamate), signs and symptoms, family history, medications and diet.)

MTHFR Testing

Most Researched MTHFR SNPs

Generally MTHFR testing is done on the best researched (and common) MTHFR genetic mutations: C677T and A1298C.


Here’s why each is important and unique:

  • MTHFR C677T – may be associated with cardiovascular problems
    If you have one or two of these SNPs, there is a potential for reduced conversion of homocysteine to methionine. Homocysteine levels may be elevated and there is an increased potential for blood clot formation. It is also associated with increased male infertility and sperm DNA alteration.
  • MTHFR A1298C – may be  associated with neurological/cognitive problems
    If you have one or two of these SNPs, there is a potential for reduced production of tetrahydrobiopterin (BH4). BH4 is an integral cofactor in nitric oxide and neurotransmitter synthesis.  This SNP does not affect homocysteine levels.

If you suspect you have MTHFR, talk with your doctor and he/she will order you a MTHFR test. Some insurance companies cover it, but you’ll have to find out if your specific insurance plan does.

Consumer Direct Genetic Testing Options

The 23andme and at home genetic testing can be ordered directly from their websites. It includes raw data for these common MTHFR SNPs as well as thousands of other genes.

In my practice I regularly use both 23andme and data to determine if you have common SNPs in the MTHFR  gene. I also look at other genes in the methylation pathway and create a PureGenomics report for my patients.

My nutrigenomic counseling session includes nutrition strategies for MTHFR and other SNPs with suggested follow-up monitoring of nutritional status.

IMPORTANT NOTE: When you supplement with folate, it’s important for your doctor to assess if Vitamin B12 status is adequate. That said, if there is a B12 deficiency, folate can mask it and there can be serious neurological implications.

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